Canonical Allele Identifier: PA2826214484
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251502
ClinVar RCV Id: RCV000238119 RCV001249084 RCV002374399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys128Tyr
CA10585174
NM_001195800.2:c.383G>A